V11L (p.Val11Leu) variant of GRIN2A (Q12879)
V11L (p.Val11Leu) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Landau-Kleffner syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- rs769657047
- ClinGen CA7897062
- ClinVar RCV001412405
- ClinVar RCV002449119
- Conflicting interpretations
- Landau-Kleffner syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Landau-Kleffner syndrome; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)